Familial Hirschsprung Disease
Gene: BACE2Comment when marking as ready: Marked as ready (awaiting publication): August 28th 2017.Created: 28 Aug 2017, 10:21 a.m.
Comment on list classification: Updated rating from Grey to Red: Gene added by Merce GARCIA-BARCELO (HK University). The publication will be submitted shortly [email correspondance]. Kept rating as Red and added 'watchlist' tag to revise rating when paper is published.Created: 16 Aug 2017, 7:40 a.m.
Data not yet publishedCreated: 16 Aug 2017, 7:38 a.m.
Phenotypes
HSCR
18th October 2017: Revised and approved to Version 1.0 after expert and curator review. An expert list from Mr. Simon Kenny and Professor Robert Hofstra's groups (Alder Hey - Erasmus MC) formed the basis of the original panel. The expert list was then expanded based on a review of literature. Many of the literature genes remain red on the V1.0 panel as they were identified through association studies and/or they represent susceptibility/risk factors for Hirschsprung's disease (HSCR). Sumita Chhabra (Alder Hey) and Erwin Brosens (Erasmus) provided extensive feedback for genes on the panel, together with reviews from Merce Garcia-Barcelo.
Mode of inheritance for BACE2 was changed to Unknown
Mode of inheritance for BACE2 was changed to Unknown
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
BACE2 was added to Familial Hirschsprung Diseasepanel. Sources: Other
BACE2 was created by Merce